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由于CEP290突变导致的早期发病的形缩症:一个病例报告

Anastasia Binder¹, Susanne Kohl², Ute Grasshoff³

¹Augencentrum Südwest, Seestrasse 59B, 70174, Stuttgart, Germany.

Documenta ophthalmologica. Advances in ophthalmology

|August 29, 2023

概括

双基因CEP290基因突变可能导致青少年视网膜变. 这种病例模仿了色斑症和形缩症,突出显示了CEP290的多样化临床表现.

科学领域:

眼科医生眼科眼科
遗传学遗传学是一个
分子生物学分子生物学

背景情况:

众所周知,CEP290基因中的双基因突变会导致早期出现的视网膜发育不良以及像Senior-Loken和Joubert综合征这样的综合症.
与CEP290突变相关的临床谱系很广泛,通常涉及综合征表现.

研究的目的:

报告一个非综合征性青少年视网膜缩异常病例.
描述CEP290相关的表型,最初模仿色素或缓慢进展的形变.

主要方法:

一个女性患者的13年随访,最初的症状是染色不清.
综合功能和形态眼睛检查,包括眼底自光学,OCT,电网光学,彩色视觉和视野测试.
全基因组测序和遗传视网膜疾病基因面板分析用于基因诊断.

主要成果:

患者呈现出一种类似于染色的表型,后来呈现出缓慢进展的状缩症.
基因测试在CEP290基因中发现了复合异构体变体:c.4452_4455del;p.(Lys1484Asnfs*4) 和c.2414T>C;p.(Leu805Pro).

结论:

CEP290突变与广泛的临床表型有关.
这一案例强调了CEP290突变可以呈现为非综合征性青少年视网膜变症,其特征重叠于色斑症和形变症.

关键词:

亚克罗马托普西亚是一种无色化症.CEP29090 CEP29090 CEP29090 CEP29090 CEP29090 CEP29090 CEP29090 CEP290 纤维病变是一种纤维病变.形缩症形缩症形缩症

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